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Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia

2024-04-01Journal article Open access
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dc.contributor.authorGenetic FTD Initiative (GENFI)
dc.contributor.authorSamra, Kiran
dc.contributor.authorPeakman, Georgia
dc.contributor.authorMacDougall, Amy M.
dc.contributor.authorBouzigues, Arabella
dc.contributor.authorGreaves, Caroline V.
dc.contributor.authorConvery, Rhian S.
dc.contributor.authorSwieten, John C. van
dc.contributor.authorJiskoot, Lize
dc.contributor.authorSeelaar, Harro
dc.contributor.authorMoreno, Fermin
dc.contributor.authorSanchez-Valle, Raquel
dc.contributor.authorLaforce, Robert
dc.contributor.authorGraff, Caroline
dc.contributor.authorMasellis, Mario
dc.contributor.authorTartaglia, Maria Carmela
dc.contributor.authorRowe, James B.
dc.contributor.authorBorroni, Barbara
dc.contributor.authorFinger, Elizabeth
dc.contributor.authorSynofzik, Matthis
dc.contributor.authorGalimberti, Daniela
dc.contributor.authorVandenberghe, Rik
dc.contributor.authorMendonça, Alexandre de
dc.contributor.authorButler, Chris R.
dc.contributor.authorGerhard, Alexander
dc.contributor.authorDucharme, Simon
dc.contributor.authorBer, Isabelle Le
dc.contributor.authorTiraboschi, Pietro
dc.contributor.authorSantana, Isabel
dc.contributor.authorPasquier, Florence
dc.contributor.authorLevin, Johannes
dc.contributor.authorOtto, Markus
dc.contributor.authorSorbi, Sandro
dc.contributor.authorRohrer, Jonathan D.
dc.contributor.authorRussell, Lucy L.
dc.contributor.authorBocchetta, Martina
dc.contributor.authorCash, David
dc.contributor.authorThomas, David L.
dc.contributor.authorCope, Thomas
dc.contributor.authorRittman, Timothy
dc.contributor.authorBenussi, Alberto
dc.contributor.authorPremi, Enrico
dc.contributor.authorGasparotti, Roberto
dc.contributor.authorArchetti, Silvana
dc.contributor.authorGazzina, Stefano
dc.contributor.authorCantoni, Valentina
dc.contributor.authorArighi, Andrea
dc.contributor.authorMaruta, Carolina
dc.contributor.authordo Couto, Frederico Simões
dc.contributor.authorAlves, Patricia
dc.contributor.authorAlmeida, Maria Rosario
dc.date.accessioned2024-04-24T14:26:33Z
dc.date.available2024-04-24T14:26:33Z
dc.date.issued2024-04-01
dc.description.abstractINTRODUCTION: We aimed to expand the range of the frontotemporal dementia (FTD) phenotypes assessed by the Clinical Dementia Rating Dementia Staging Instrument plus National Alzheimer's Coordinating Center Behavior and Language Domains (CDR plus NACC FTLD). METHODS: Neuropsychiatric and motor domains were added to the standard CDR plus NACC FTLD generating a new CDR plus NACC FTLD-NM scale. This was assessed in 522 mutation carriers and 310 mutation-negative controls from the Genetic Frontotemporal dementia Initiative (GENFI). RESULTS: The new scale led to higher global severity scores than the CDR plus NACC FTLD: 1.4% of participants were now considered prodromal rather than asymptomatic, while 1.3% were now considered symptomatic rather than asymptomatic or prodromal. No participants with a clinical diagnosis of an FTD spectrum disorder were classified as asymptomatic using the new scales. DISCUSSION: Adding new domains to the CDR plus NACC FTLD leads to a scale that encompasses the wider phenotypic spectrum of FTD with further work needed to validate its use more widely. Highlights: The new Clinical Dementia Rating Dementia Staging Instrument plus National Alzheimer's Coordinating Center Behavior and Language Domains neuropsychiatric and motor (CDR plus NACC FTLD-NM) rating scale was significantly positively correlated with the original CDR plus NACC FTLD and negatively correlated with the FTD Rating Scale (FRS). No participants with a clinical diagnosis in the frontotemporal dementia spectrum were classified as asymptomatic with the new CDR plus NACC FTLD-NM rating scale. Individuals had higher global severity scores with the addition of the neuropsychiatric and motor domains. A receiver operating characteristic analysis of symptomatic diagnosis showed nominally higher areas under the curve for the new scales.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.doi10.1002/dad2.12571pt_PT
dc.identifier.eid85190408664
dc.identifier.issn2352-8729
dc.identifier.pmcPMC11016817
dc.identifier.pmid38623386
dc.identifier.urihttp://hdl.handle.net/10400.14/44794
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/pt_PT
dc.subjectC9orf72pt_PT
dc.subjectFrontotemporal dementiapt_PT
dc.subjectGeneticspt_PT
dc.subjectProgranulinpt_PT
dc.subjectTaupt_PT
dc.titleExtending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementiapt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue2pt_PT
oaire.citation.titleAlzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoringpt_PT
oaire.citation.volume16pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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